TGFBR2

(redirected from TAAD2)

TGFBR2

A gene on chromosome 3p22 that encodes a transmembrane kinase of the TGFB receptor subfamily of Ser/Thr protein kinases, which forms a heteromer with type-I TGF-beta receptors and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which enter the nucleus and regulate transcription of cell proliferation-related genes.

Molecular pathology
TGFBR2 mutations are associated with Marfan syndrome, Loeys-Deitz aortic aneurysm syndrome and development of various tumours.
References in periodicals archive ?
Multiple loci have been identified, including the TAAD1 locus mapped to 5q13-14, the FAA1 locus mapped to 11q23.3-24, the TAAD2 locus mapped to 3p24-25 with TGFBR2 being the mutant gene, the TAAD3 locus mapped to 15q24-26, and the TAAD4 locus mapped to 10q23-24 with ACTA2 being the mutant gene [6].